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Browsing Tag

Biomedicine

94 posts
GGenetics
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  • October 22, 2025
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
GGenetics
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
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Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

  • October 21, 2025
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
GGenetics
Genetic susceptibility to caffeine intake and metabolism: a systematic review | Journal of Translational Medicine
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Genetic susceptibility to caffeine intake and metabolism: a systematic review | Journal of Translational Medicine

  • October 19, 2025
Coffee and Caffeine Genetics Consortium, Cornelis MC, Byrne EM, et al. Genome-wide meta-analysis identifies six novel loci associated…
GGenetics
Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer
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Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer

  • October 18, 2025
Park JR, Kreissman SG, London WB, Naranjo A, Cohn SL, Hogarty MD, et al. Effect of tandem autologous…
GGenetics
Redefining cellular reprogramming with advanced genomic technologies
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Redefining cellular reprogramming with advanced genomic technologies

  • October 18, 2025
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
HHealthcare
When helpfulness backfires: LLMs and the risk of false medical information due to sycophantic behavior
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When helpfulness backfires: LLMs and the risk of false medical information due to sycophantic behavior

  • October 17, 2025
To evaluate language models across varying levels of drug familiarity, we used the RABBITS30 dataset, which includes 550…
HHealth
From dysbiosis to longevity: a narrative review into the gut microbiome’s impact on aging | Journal of Biomedical Science
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From dysbiosis to longevity: a narrative review into the gut microbiome’s impact on aging | Journal of Biomedical Science

  • October 12, 2025
Partridge L, Deelen J, Slagboom PE. Facing up to the global challenges of ageing. Nature. 2018;561:45–56. Article  PubMed …
GGenetics
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
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Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

  • October 11, 2025
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
GGenetics
Nucleotide dependency analysis of genomic language models detects functional elements
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Nucleotide dependency analysis of genomic language models detects functional elements

  • October 11, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
GGenetics
Forensic genetics in the omics era
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Forensic genetics in the omics era

  • October 10, 2025
Jeffreys, A. J., Wilson, V. & Thein, S. L. Individual-specific ‘fingerprints’ of human DNA. Nature 316, 76–79 (1985).…
HHealthcare
Generative artificial intelligence in medicine
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Generative artificial intelligence in medicine

  • October 6, 2025
Bengesi, S. et al. Advancements in generative AI: a comprehensive review of GANs, GPT, autoencoders, diffusion model, and…
HHealth
Genetic mutation in some East Asians linked to aldehyde storm and increased liver disease risk
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Antihypertensive and lipid-lowering drugs show efficacy against steatotic liver disease

  • October 6, 2025
Metabolic dysfunction-associated steatotic liver disease is the most common liver disease in the world, affecting about one third…
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